Lymphatic malformation 1

Preferred Label : Lymphatic malformation 1;

Symbol : LMPHM1;

CISMeF acronym : LMPH1A; PCL; LMPHM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nonne-milroy lymphedema; Milroy disease; Lymphedema, early-onset; Primary congenital lymphedema; PCL; Lymphedema, hereditary, ia; LMPH1A; Lymphedema, hereditary, type I;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the FMS-like tyrosine kinase-4 gene (FLT4, 136352.0005);

Prefixed ID : #153100;

Details

Origin ID

153100;

UMLS CUI

C1704423;

Automatic exact mappings (from CISMeF team)
- Congenital primary lymphoedema [ICD-11 More detail]
Broader ORDO disease(s)
- Congenital primary lymphedema without systemic or visceral involvement [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital lymphoedema [MedDRA Preferred Term]
- Hereditary lymphedema [ICD-10 Sub-category]
- Hereditary lymphedema (disorder) [SNOMED CT concept]
- Hereditary lymphedema type I (disorder) [SNOMED CT concept]
- Lymphedema congenital [MedDRA LLT]
- Lymphoedema congenital [MedDRA LLT]
- Milroy disease [ORDO Disease]
- Milroy's disease [MedDRA LLT]
- Primary Lymphedema [NCIt concept]
- Primary lymphedema [ORDO Disease]
- Primary lymphoedema [ICD-11 Subcategory]
- hereditary lymphedema I [DO Concept]
- hereditary lymphedema IA [DO Concept]
- milroy disease [MeSH concept]
DO Cross reference
- hereditary lymphedema IA [DO Concept]
False automatic mappings
- Plasma cell leukemia [ORDO Disease]
Genes related to phenotype
- Fms-like tyrosine kinase 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cellulitis [HPO term]
- Congenital onset [HPO term]
- Hemangioma [HPO term]
- Hydrocele testis [HPO term]
- Hyperkeratosis over edematous areas [HPO term]
- Hypoplasia of lymphatic vessels [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Papilloma [HPO term]
- Predominantly lower limb lymphedema [HPO term]
- Prominent superficial veins [HPO term]
- Upslanting toenail [HPO term]
- Urethral stricture [HPO term]
ORDO concept(s)
- Milroy disease [ORDO Disease]
See also inter- (CISMeF)
- Congenital primary lymphedema without systemic or visceral involvement [ORDO Disease]
- FLT4 wt Allele [NCIt concept]
- fms related receptor tyrosine kinase 4 [ORDO Gene]
- fms related receptor tyrosine kinase 4 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital lymphoedema [MedDRA Preferred Term]
- Congenital primary lymphedema without systemic or visceral involvement [ORDO Disease]
- Hereditary lymphedema [ICD-10 Sub-category]
- Hereditary lymphedema (disorder) [SNOMED CT concept]
- Hereditary lymphedema type I (disorder) [SNOMED CT concept]
- Lymphedema congenital [MedDRA LLT]
- Lymphoedema congenital [MedDRA LLT]
- Milroy disease [ORDO Disease]
- Milroy's disease [MedDRA LLT]
- Primary Lymphedema [NCIt concept]
- Primary lymphedema [ORDO Disease]
- Primary lymphoedema [ICD-11 Subcategory]
- hereditary lymphedema I [DO Concept]
- milroy disease [MeSH concept]

Keyword's position in hierarchy(ies) :

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